scholarly journals Distinctive phenotype in a girl with Rett syndrome and a novel 25 bp deletion mutation in exon 4 (c.881_905del25, nm_004992.3) of the MECP2 gene

2014 ◽  
Vol 58 (4) ◽  
pp. 283-5
Author(s):  
Matej Katavić ◽  
Monika Kukuruzović ◽  
Maša Malenica ◽  
Saša Seneca ◽  
Ljerka Cvitanović Šojat
Keyword(s):  
Rett Syndrome ◽  
Deletion Mutation ◽  
Mecp2 Gene ◽  
Exon 4 ◽  
Distinctive Phenotype

scholarly journals Clinical Evaluation of Patients with Classical Rett Syndrome and MECP2 Gene Analysis

2021 ◽  
Vol 35 (1) ◽  
pp. 87-97
Author(s):  
Filiz Hazan ◽  
Semra Gürsoy ◽  
Aycan Ünalp ◽  
Ünsal Yılmaz
Keyword(s):  
Rett Syndrome ◽  
Clinical Evaluation ◽  
Gene Analysis ◽  
Mecp2 Gene

scholarly journals Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms

2007 ◽  
Vol 52 (4) ◽  
pp. 342-348 ◽  
Author(s):  
Daniela Zahorakova ◽  
Robert Rosipal ◽  
Jan Hadac ◽  
Alena Zumrova ◽  
Vladimir Bzduch ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Mutation Analysis ◽  
Mecp2 Gene ◽  
Novel Mutations

scholarly journals Rett syndrome and the MECP2 gene

2001 ◽  
Vol 38 (4) ◽  
pp. 217-223 ◽  
Author(s):  
T. Webb
Keyword(s):  
Rett Syndrome ◽  
Mecp2 Gene

Influence of MECP2 Gene Mutation and X-Chromosome Inactivation on the Rett Syndrome Phenotype

2004 ◽  
Vol 19 (7) ◽  
pp. 503-508 ◽  
Author(s):  
Jong Hee Chae ◽  
Hee Hwang ◽  
Yong Seung Hwang ◽  
Hee Jung Cheong ◽  
Ki Joong Kim
Keyword(s):  
Gene Mutation ◽  
Rett Syndrome ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Mecp2 Gene

scholarly journals Sphingolipid Metabolism Perturbations in Rett Syndrome

Metabolites ◽  
2019 ◽  
Vol 9 (10) ◽  
pp. 221 ◽  
Author(s):  
Cappuccio ◽  
Donti ◽  
Pinelli ◽  
Bernardo ◽  
Bravaccio ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Metabolic Profiling ◽  
Neurodevelopmental Disorder ◽  
Sphingolipid Metabolism ◽  
Tandem Mass ◽  
Mecp2 Gene ◽  
Loss Of Function ◽  
Disease Pathogenesis ◽  
Blood Samples ◽  
Disease Biomarkers

Rett syndrome is a severe neurodevelopmental disorder affecting mostly females and is caused by loss-of-function mutations in the MECP2 gene that encoded the methyl-CpG-binding protein 2. The pathogenetic mechanisms of Rett syndrome are not completely understood and metabolic derangements are emerging as features of Rett syndrome. We performed a semi-quantitative tandem mass spectrometry-based analysis that measured over 900 metabolites on blood samples from 14 female subjects with Rett syndrome carrying MECP2 mutations. The metabolic profiling revealed alterations in lipids, mostly involved in sphingolipid metabolism, and sphinganine/sphingosine, that are known to have a neurotrophic role. Further investigations are required to understand the mechanisms underlying such perturbations and their significance in the disease pathogenesis. Nevertheless, these metabolites are attractive for studies on the disease pathogenesis and as potential disease biomarkers.

Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients

2010 ◽  
Vol 32 (10) ◽  
pp. 843-848 ◽  
Author(s):  
Leila Schuindt Monnerat ◽  
Aline dos Santos Moreira ◽  
Maria Carolina Viana Alves ◽  
Cibele Rodrigues Bonvicino ◽  
Fernando Regla Vargas
Keyword(s):  
Rett Syndrome ◽  
Mecp2 Gene ◽  
Sequence Variations ◽  
Identification And Characterization

A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients

2001 ◽  
Vol 108 (1) ◽  
pp. 43-50 ◽  
Author(s):  
Violaine Bourdon ◽  
Christophe Philippe ◽  
Orianne Labrune ◽  
Daniel Amsallem ◽  
Cécile Arnould ◽  
...  
Keyword(s):  
Detailed Analysis ◽  
Rett Syndrome ◽  
Mecp2 Gene ◽  
Dna Rearrangements ◽  
Recurrent Mutations

scholarly journals Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.

1995 ◽  
Vol 32 (5) ◽  
pp. 379-382 ◽  
Author(s):  
L Theart ◽  
M J Kotze ◽  
E Langenhoven ◽  
O Loubser ◽  
A V Peeters ◽  
...  
Keyword(s):  
Receptor Gene ◽  
Ldl Receptor ◽  
Deletion Mutation ◽  
Gene Identification ◽  
Exon 4

Homozygosity for MECP2 gene in a girl with classical Rett syndrome

2007 ◽  
Vol 50 (6) ◽  
pp. 465-468 ◽  
Author(s):  
Daniela Karall ◽  
Edda Haberlandt ◽  
Sabine Scholl-Bürgi ◽  
Sara Baumgartner ◽  
Montserrat Naudó ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Mecp2 Gene
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